Canonical Allele Identifier: CA396768212

Gene: FA2H

Linked Data

• dbSNP Id: rs1360240159
• gnomAD v3: 16-74774559-G-A
• gnomAD v4: 16-74774559-G-A
• MyVariant Identifiers: chr16:g.74808457G>A (hg19) ; chr16:g.74774559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774559G>A , CM000678.2:g.74774559G>A	GRCh38
NC_000016.9:g.74808457G>A , CM000678.1:g.74808457G>A	GRCh37
NC_000016.8:g.73365958G>A	NCBI36
NG_017070.1:g.5273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.197C>T MANE Select	ENSP00000219368.3:p.Pro66Leu
ENST00000219368.7:c.197C>T	ENSP00000219368.3:p.Pro66Leu
ENST00000567683.5:c.197C>T	ENSP00000455126.1:p.Pro66Leu
NM_024306.4:c.197C>T	NP_077282.3:p.Pro66Leu
XM_011523317.1:c.197C>T	XP_011521619.1:p.Pro66Leu
XM_011523318.1:c.197C>T	XP_011521620.1:p.Pro66Leu
XM_011523317.3:c.197C>T	XP_011521619.1:p.Pro66Leu
NM_024306.5:c.197C>T MANE Select	NP_077282.3:p.Pro66Leu