Canonical Allele Identifier: CA396768215
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1467977455

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774560G>A , CM000678.2:g.74774560G>A GRCh38
NC_000016.9:g.74808458G>A , CM000678.1:g.74808458G>A GRCh37
NC_000016.8:g.73365959G>A NCBI36
NG_017070.1:g.5272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.196C>T MANE Select ENSP00000219368.3:p.Pro66Ser
ENST00000219368.7:c.196C>T ENSP00000219368.3:p.Pro66Ser
ENST00000567683.5:c.196C>T ENSP00000455126.1:p.Pro66Ser
NM_024306.4:c.196C>T NP_077282.3:p.Pro66Ser
XM_011523317.1:c.196C>T XP_011521619.1:p.Pro66Ser
XM_011523318.1:c.196C>T XP_011521620.1:p.Pro66Ser
XM_011523317.3:c.196C>T XP_011521619.1:p.Pro66Ser
NM_024306.5:c.196C>T MANE Select NP_077282.3:p.Pro66Ser