Canonical Allele Identifier: CA8648350

Gene: ACSF2 CHAD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50468243G>C , CM000679.2:g.50468243G>C	GRCh38
NC_000017.10:g.48545604G>C , CM000679.1:g.48545604G>C	GRCh37
NC_000017.9:g.45900603G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001267.3:c.571C>G (CHAD) MANE Select	NP_001258.2:p.Leu191Val
NM_025149.6:c.1216-2785G>C (ACSF2) MANE Select	NP_079425.3:n.1216-2785G>C
ENST00000300441.9:c.1216-2785G>C (ACSF2) MANE Select	ENSP00000300441.4:n.1216-2785G>C
ENST00000508540.6:c.571C>G (CHAD) MANE Select	ENSP00000423812.1:p.Leu191Val
NM_001267.2:c.571C>G (CHAD)	NP_001258.2:p.Leu191Val
NM_001288968.1:c.1291-2785G>C (ACSF2)	NP_001275897.1:n.1291-2785G>C
NM_001288968.2:c.1291-2785G>C (ACSF2)	NP_001275897.1:n.1291-2785G>C
NM_001288969.1:c.1177-2785G>C (ACSF2)	NP_001275898.1:n.1177-2785G>C
NM_001288969.2:c.1177-2785G>C (ACSF2)	NP_001275898.1:n.1177-2785G>C
NM_001288970.1:c.1087-2785G>C (ACSF2)	NP_001275899.1:n.1087-2785G>C
NM_001288970.2:c.1087-2785G>C (ACSF2)	NP_001275899.1:n.1087-2785G>C
NM_001288971.1:c.736-2785G>C (ACSF2)	NP_001275900.1:n.736-2785G>C
NM_001288971.2:c.736-2785G>C (ACSF2)	NP_001275900.1:n.736-2785G>C
NM_001288972.1:c.736-2785G>C (ACSF2)	NP_001275901.1:n.736-2785G>C
NM_001288972.2:c.736-2785G>C (ACSF2)	NP_001275901.1:n.736-2785G>C
NM_025149.5:c.1216-2785G>C (ACSF2)	NP_079425.3:n.1216-2785G>C
ENST00000258969.4:c.571C>G (CHAD)	ENSP00000258969.4:p.Leu191Val
ENST00000300441.8:c.1216-2785G>C (ACSF2)	ENSP00000300441.4:n.1216-2785G>C
ENST00000427954.6:c.1291-2785G>C (ACSF2)	ENSP00000401831.2:n.1291-2785G>C
ENST00000502667.5:c.1177-2785G>C (ACSF2)	ENSP00000421884.1:n.1177-2785G>C
ENST00000504392.5:c.1087-2785G>C (ACSF2)	ENSP00000425964.1:n.1087-2785G>C
ENST00000507769.1:n.223-2785G>C (ACSF2)
ENST00000508245.5:c.225-2785G>C (ACSF2)	ENSP00000422546.1:n.225-2785G>C
ENST00000508540.5:c.571C>G (CHAD)	ENSP00000423812.1:p.Leu191Val
ENST00000509806.1:n.57-2785G>C (ACSF2)
ENST00000510262.1:c.281-2785G>C (ACSF2)
ENST00000510410.5:c.*753-2785G>C (ACSF2)	ENSP00000425332.1:n.*753-2785G>C
ENST00000513101.1:n.404-2785G>C (ACSF2)
ENST00000513544.5:n.239+165G>C (ACSF2)
XM_006722110.2:c.1216-2785G>C (ACSF2)	XP_006722173.1:n.1216-2785G>C
XM_006722110.4:c.1216-2785G>C (ACSF2)	XP_006722173.1:n.1216-2785G>C
XM_011524214.1:c.814C>G (CHAD)	XP_011522516.1:p.Leu272Val
XM_011524214.2:c.814C>G (CHAD)	XP_011522516.1:p.Leu272Val
XM_011525294.1:c.1198-2785G>C (ACSF2)	XP_011523596.1:n.1198-2785G>C
XM_011525294.2:c.1198-2785G>C (ACSF2)	XP_011523596.1:n.1198-2785G>C
XR_429924.2:n.1334-2785G>C (ACSF2)
XR_429924.3:n.1302-2785G>C (ACSF2)
XR_934563.1:n.1334-2785G>C (ACSF2)
XR_934563.3:n.1302-2785G>C (ACSF2)
XR_934564.1:n.1468-2785G>C (ACSF2)
XR_934564.2:n.1436-2785G>C (ACSF2)
XR_934565.1:n.1168-2785G>C (ACSF2)
XR_934565.2:n.1136-2785G>C (ACSF2)
XR_934566.1:n.1168-2785G>C (ACSF2)
XR_934566.3:n.1136-2785G>C (ACSF2)
XR_934567.1:n.1376-2785G>C (ACSF2)
XR_934567.2:n.1344-2785G>C (ACSF2)