Canonical Allele Identifier: CA396769966

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760229C>A (hg19) ; chr16:g.74726331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726331C>A , CM000678.2:g.74726331C>A	GRCh38
NC_000016.9:g.74760229C>A , CM000678.1:g.74760229C>A	GRCh37
NC_000016.8:g.73317730C>A	NCBI36
NG_017070.1:g.53501G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.507G>T MANE Select	ENSP00000219368.3:p.Trp169Cys
ENST00000219368.7:c.507G>T	ENSP00000219368.3:p.Trp169Cys
ENST00000567683.5:c.364-7171G>T	ENSP00000455126.1:n.364-7171G>T
ENST00000569949.1:c.309G>T	ENSP00000464576.1:p.Trp103Cys
NM_024306.4:c.507G>T	NP_077282.3:p.Trp169Cys
XM_011523317.1:c.507G>T	XP_011521619.1:p.Trp169Cys
XM_011523318.1:c.507G>T	XP_011521620.1:p.Trp169Cys
XM_011523319.1:c.267G>T	XP_011521621.1:p.Trp89Cys
XM_011523317.3:c.507G>T	XP_011521619.1:p.Trp169Cys
XM_011523319.2:c.267G>T	XP_011521621.1:p.Trp89Cys
NM_024306.5:c.507G>T MANE Select	NP_077282.3:p.Trp169Cys