Canonical Allele Identifier: CA2807830

Gene: FAM53A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1655095C>G , CM000666.2:g.1655095C>G	GRCh38
NC_000004.11:g.1656822C>G , CM000666.1:g.1656822C>G	GRCh37
NC_000004.10:g.1626619C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001174070.3:c.765G>C MANE Select	NP_001167541.1:p.Leu255=
ENST00000308132.11:c.765G>C MANE Select	ENSP00000310057.6:p.Leu255=
NM_001013622.3:c.765G>C	NP_001013644.1:p.Leu255=
NM_001174070.2:c.765G>C	NP_001167541.1:p.Leu255=
NM_001297435.1:c.765G>C	NP_001284364.1:p.Leu255=
ENST00000308132.10:c.765G>C	ENSP00000310057.6:p.Leu255=
ENST00000461064.5:c.765G>C	ENSP00000418243.1:p.Leu255=
ENST00000472884.6:c.765G>C	ENSP00000426260.1:p.Leu255=
ENST00000489029.1:c.314G>C
ENST00000489363.5:c.765G>C	ENSP00000419044.1:p.Leu255=
XM_005247948.2:c.765G>C	XP_005248005.1:p.Leu255=
XM_005247948.3:c.765G>C	XP_005248005.1:p.Leu255=
XM_011513402.1:c.765G>C	XP_011511704.1:p.Leu255=
XM_011513402.2:c.765G>C	XP_011511704.1:p.Leu255=
XM_011513403.1:c.765G>C	XP_011511705.1:p.Leu255=
XM_011513404.1:c.765G>C	XP_011511706.1:p.Leu255=
XM_011513404.2:c.765G>C	XP_011511706.1:p.Leu255=
XM_011513405.1:c.765G>C	XP_011511707.1:p.Leu255=
XM_017007802.1:c.765G>C	XP_016863291.1:p.Leu255=
XM_024453912.1:c.765G>C	XP_024309680.1:p.Leu255=
XR_924913.1:n.1660G>C
XR_924913.3:n.1660G>C