Canonical Allele Identifier: CA2634286321

Gene: FA2H

Linked Data

• gnomAD v4: 16-74713367-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74713367A>C , CM000678.2:g.74713367A>C	GRCh38
NC_000016.9:g.74747265A>C , CM000678.1:g.74747265A>C	GRCh37
NC_000016.8:g.73304766A>C	NCBI36
NG_017070.1:g.66465T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.*823T>G MANE Select	ENSP00000219368.3:n.*823T>G
ENST00000219368.7:c.*823T>G	ENSP00000219368.3:n.*823T>G
ENST00000562145.1:n.1663T>G
NM_024306.4:c.*823T>G	NP_077282.3:n.*823T>G
XM_011523319.1:c.*823T>G	XP_011521621.1:n.*823T>G
XM_011523319.2:c.*823T>G	XP_011521621.1:n.*823T>G
NM_024306.5:c.*823T>G MANE Select	NP_077282.3:n.*823T>G