Canonical Allele Identifier: CA496543977
Gene: FA2H HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.74750462A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74716564A>G , CM000678.2:g.74716564A>G GRCh38
NC_000016.9:g.74750462A>G , CM000678.1:g.74750462A>G GRCh37
NC_000016.8:g.73307963A>G NCBI36
NG_017070.1:g.63268T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000219368.8:c.822T>C MANE Select ENSP00000219368.3:p.Pro274=
ENST00000219368.7:c.822T>C ENSP00000219368.3:p.Pro274=
ENST00000562145.1:n.543T>C
ENST00000567683.5:c.*101T>C ENSP00000455126.1:n.*101T>C
NM_024306.4:c.822T>C NP_077282.3:p.Pro274=
XM_011523319.1:c.582T>C XP_011521621.1:p.Pro194=
XM_011523317.3:c.*1686T>C XP_011521619.1:n.*1686T>C
XM_011523319.2:c.582T>C XP_011521621.1:p.Pro194=
NM_024306.5:c.822T>C MANE Select NP_077282.3:p.Pro274=
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