Canonical Allele Identifier: CA785077015

Gene: HADH

Linked Data

• dbSNP Id: rs1255955532
• gnomAD v3: 4-108027972-G-T
• gnomAD v4: 4-108027972-G-T
• MyVariant Identifiers: chr4:g.108949128G>T (hg19) ; chr4:g.108027972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027972G>T , CM000666.2:g.108027972G>T	GRCh38
NC_000004.11:g.108949128G>T , CM000666.1:g.108949128G>T	GRCh37
NC_000004.10:g.109168577G>T	NCBI36
NG_008156.2:g.43189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5131G>T
ENST00000510728.6:n.1731G>T
ENST00000514776.3:n.354G>T
ENST00000515462.7:n.2108G>T
ENST00000626637.2:c.721+212G>T	ENSP00000486771.1:n.721+212G>T
ENST00000638648.2:c.*5G>T	ENSP00000507949.1:n.*5G>T
ENST00000640201.2:n.1007G>T
ENST00000640752.2:n.4919+212G>T
ENST00000682067.1:c.542+212G>T
ENST00000682086.1:n.990G>T
ENST00000682373.1:c.368+212G>T
ENST00000684696.1:c.670G>T	ENSP00000507675.1:p.Gly224Cys
ENST00000309522.8:c.709+212G>T MANE Select	ENSP00000312288.4:n.709+212G>T
ENST00000403312.6:c.709+212G>T	ENSP00000385638.3:n.709+212G>T
ENST00000505878.4:c.886+212G>T	ENSP00000425952.2:n.886+212G>T
ENST00000514776.2:n.354G>T
ENST00000515462.6:n.2108G>T
ENST00000638559.1:c.567+212G>T
ENST00000638621.1:c.295+212G>T	ENSP00000491581.1:n.295+212G>T
ENST00000638648.1:n.860+212G>T
ENST00000639146.1:c.*5G>T	ENSP00000492345.1:n.*5G>T
ENST00000639335.1:c.*144+212G>T	ENSP00000491310.1:n.*144+212G>T
ENST00000639698.1:c.516+4409G>T	ENSP00000492420.1:n.516+4409G>T
ENST00000639784.1:c.373+4409G>T
ENST00000640048.1:c.681+212G>T	ENSP00000492009.1:n.681+212G>T
ENST00000640060.1:c.*804+212G>T	ENSP00000492734.1:n.*804+212G>T
ENST00000640201.1:n.876G>T
ENST00000640752.1:n.4912+212G>T
ENST00000309522.7:c.709+212G>T	ENSP00000312288.3:n.709+212G>T
ENST00000403312.5:c.886+212G>T	ENSP00000385638.2:n.886+212G>T
ENST00000505878.3:c.721+212G>T	ENSP00000425952.1:n.721+212G>T
ENST00000510728.5:n.283G>T
ENST00000515462.5:n.258G>T
ENST00000603302.5:c.709+212G>T	ENSP00000474560.1:n.709+212G>T
ENST00000626637.1:c.721+212G>T	ENSP00000486771.1:n.721+212G>T
NM_001184705.2:c.709+212G>T	NP_001171634.2:n.709+212G>T
NM_005327.4:c.709+212G>T	NP_005318.3:n.709+212G>T
XM_005262972.1:c.721+212G>T	XP_005263029.1:n.721+212G>T
XR_938726.1:n.1070G>T
NM_001331027.1:c.721+212G>T	NP_001317956.1:n.721+212G>T
XR_001741214.2:n.837G>T
XR_002959727.1:n.1015G>T
NM_001184705.3:c.709+212G>T	NP_001171634.2:n.709+212G>T
NM_005327.7:c.709+212G>T MANE Select	NP_005318.6:n.709+212G>T
NM_001184705.4:c.709+212G>T	NP_001171634.3:n.709+212G>T
NM_001331027.2:c.721+212G>T	NP_001317956.2:n.721+212G>T