Canonical Allele Identifier: CA396769945

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760221A>G (hg19) ; chr16:g.74726323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726323A>G , CM000678.2:g.74726323A>G	GRCh38
NC_000016.9:g.74760221A>G , CM000678.1:g.74760221A>G	GRCh37
NC_000016.8:g.73317722A>G	NCBI36
NG_017070.1:g.53509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.515T>C MANE Select	ENSP00000219368.3:p.Val172Ala
ENST00000219368.7:c.515T>C	ENSP00000219368.3:p.Val172Ala
ENST00000567683.5:c.364-7163T>C	ENSP00000455126.1:n.364-7163T>C
ENST00000569949.1:c.317T>C	ENSP00000464576.1:p.Val106Ala
NM_024306.4:c.515T>C	NP_077282.3:p.Val172Ala
XM_011523317.1:c.515T>C	XP_011521619.1:p.Val172Ala
XM_011523318.1:c.515T>C	XP_011521620.1:p.Val172Ala
XM_011523319.1:c.275T>C	XP_011521621.1:p.Val92Ala
XM_011523317.3:c.515T>C	XP_011521619.1:p.Val172Ala
XM_011523319.2:c.275T>C	XP_011521621.1:p.Val92Ala
NM_024306.5:c.515T>C MANE Select	NP_077282.3:p.Val172Ala