Canonical Allele Identifier: CA496547775

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760223A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726325A>G , CM000678.2:g.74726325A>G	GRCh38
NC_000016.9:g.74760223A>G , CM000678.1:g.74760223A>G	GRCh37
NC_000016.8:g.73317724A>G	NCBI36
NG_017070.1:g.53507T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.513T>C MANE Select	ENSP00000219368.3:p.Ser171=
ENST00000219368.7:c.513T>C	ENSP00000219368.3:p.Ser171=
ENST00000567683.5:c.364-7165T>C	ENSP00000455126.1:n.364-7165T>C
ENST00000569949.1:c.315T>C	ENSP00000464576.1:p.Ser105=
NM_024306.4:c.513T>C	NP_077282.3:p.Ser171=
XM_011523317.1:c.513T>C	XP_011521619.1:p.Ser171=
XM_011523318.1:c.513T>C	XP_011521620.1:p.Ser171=
XM_011523319.1:c.273T>C	XP_011521621.1:p.Ser91=
XM_011523317.3:c.513T>C	XP_011521619.1:p.Ser171=
XM_011523319.2:c.273T>C	XP_011521621.1:p.Ser91=
NM_024306.5:c.513T>C MANE Select	NP_077282.3:p.Ser171=