Canonical Allele Identifier: CA979034509

Gene: FA2H

Linked Data

• dbSNP Id: rs1961955248
• gnomAD v3: 16-74726334-G-A
• gnomAD v4: 16-74726334-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726334G>A , CM000678.2:g.74726334G>A	GRCh38
NC_000016.9:g.74760232G>A , CM000678.1:g.74760232G>A	GRCh37
NC_000016.8:g.73317733G>A	NCBI36
NG_017070.1:g.53498C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.507-3C>T MANE Select	ENSP00000219368.3:n.507-3C>T
ENST00000219368.7:c.507-3C>T	ENSP00000219368.3:n.507-3C>T
ENST00000567683.5:c.364-7174C>T	ENSP00000455126.1:n.364-7174C>T
ENST00000569949.1:c.309-3C>T	ENSP00000464576.1:n.309-3C>T
NM_024306.4:c.507-3C>T	NP_077282.3:n.507-3C>T
XM_011523317.1:c.507-3C>T	XP_011521619.1:n.507-3C>T
XM_011523318.1:c.507-3C>T	XP_011521620.1:n.507-3C>T
XM_011523319.1:c.267-3C>T	XP_011521621.1:n.267-3C>T
XM_011523317.3:c.507-3C>T	XP_011521619.1:n.507-3C>T
XM_011523319.2:c.267-3C>T	XP_011521621.1:n.267-3C>T
NM_024306.5:c.507-3C>T MANE Select	NP_077282.3:n.507-3C>T