Canonical Allele Identifier: CA396769960

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760227T>A (hg19) ; chr16:g.74726329T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726329T>A , CM000678.2:g.74726329T>A	GRCh38
NC_000016.9:g.74760227T>A , CM000678.1:g.74760227T>A	GRCh37
NC_000016.8:g.73317728T>A	NCBI36
NG_017070.1:g.53503A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.509A>T MANE Select	ENSP00000219368.3:p.Tyr170Phe
ENST00000219368.7:c.509A>T	ENSP00000219368.3:p.Tyr170Phe
ENST00000567683.5:c.364-7169A>T	ENSP00000455126.1:n.364-7169A>T
ENST00000569949.1:c.311A>T	ENSP00000464576.1:p.Tyr104Phe
NM_024306.4:c.509A>T	NP_077282.3:p.Tyr170Phe
XM_011523317.1:c.509A>T	XP_011521619.1:p.Tyr170Phe
XM_011523318.1:c.509A>T	XP_011521620.1:p.Tyr170Phe
XM_011523319.1:c.269A>T	XP_011521621.1:p.Tyr90Phe
XM_011523317.3:c.509A>T	XP_011521619.1:p.Tyr170Phe
XM_011523319.2:c.269A>T	XP_011521621.1:p.Tyr90Phe
NM_024306.5:c.509A>T MANE Select	NP_077282.3:p.Tyr170Phe