Canonical Allele Identifier: CA2634289854
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74774376-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774376C>T , CM000678.2:g.74774376C>T GRCh38
NC_000016.9:g.74808274C>T , CM000678.1:g.74808274C>T GRCh37
NC_000016.8:g.73365775C>T NCBI36
NG_017070.1:g.5456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.270+110G>A MANE Select ENSP00000219368.3:n.270+110G>A
ENST00000219368.7:c.270+110G>A ENSP00000219368.3:n.270+110G>A
ENST00000567683.5:c.270+110G>A ENSP00000455126.1:n.270+110G>A
NM_024306.4:c.270+110G>A NP_077282.3:n.270+110G>A
XM_011523317.1:c.270+110G>A XP_011521619.1:n.270+110G>A
XM_011523318.1:c.270+110G>A XP_011521620.1:n.270+110G>A
XM_011523317.3:c.270+110G>A XP_011521619.1:n.270+110G>A
NM_024306.5:c.270+110G>A MANE Select NP_077282.3:n.270+110G>A
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