Canonical Allele Identifier: CA396768416
Gene: FA2H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774655T>A , CM000678.2:g.74774655T>A GRCh38
NC_000016.9:g.74808553T>A , CM000678.1:g.74808553T>A GRCh37
NC_000016.8:g.73366054T>A NCBI36
NG_017070.1:g.5177A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000219368.8:c.101A>T MANE Select ENSP00000219368.3:p.Tyr34Phe
ENST00000219368.7:c.101A>T ENSP00000219368.3:p.Tyr34Phe
ENST00000567683.5:c.101A>T ENSP00000455126.1:p.Tyr34Phe
NM_024306.4:c.101A>T NP_077282.3:p.Tyr34Phe
XM_011523317.1:c.101A>T XP_011521619.1:p.Tyr34Phe
XM_011523318.1:c.101A>T XP_011521620.1:p.Tyr34Phe
XM_011523317.3:c.101A>T XP_011521619.1:p.Tyr34Phe
NM_024306.5:c.101A>T MANE Select NP_077282.3:p.Tyr34Phe