Canonical Allele Identifier: CA396769968

Gene: FA2H

Linked Data

• gnomAD v4: 16-74726331-C-T
• MyVariant Identifiers: chr16:g.74760229C>T (hg19) ; chr16:g.74726331C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.507G>A MANE Select	ENSP00000219368.3:p.Trp169Ter
ENST00000219368.7:c.507G>A	ENSP00000219368.3:p.Trp169Ter
ENST00000567683.5:c.364-7171G>A	ENSP00000455126.1:n.364-7171G>A
ENST00000569949.1:c.309G>A	ENSP00000464576.1:p.Trp103Ter
NM_024306.4:c.507G>A	NP_077282.3:p.Trp169Ter
XM_011523317.1:c.507G>A	XP_011521619.1:p.Trp169Ter
XM_011523318.1:c.507G>A	XP_011521620.1:p.Trp169Ter
XM_011523319.1:c.267G>A	XP_011521621.1:p.Trp89Ter
XM_011523317.3:c.507G>A	XP_011521619.1:p.Trp169Ter
XM_011523319.2:c.267G>A	XP_011521621.1:p.Trp89Ter
NM_024306.5:c.507G>A MANE Select	NP_077282.3:p.Trp169Ter