Canonical Allele Identifier: CA10638356

Gene: FA2H

Linked Data

• ClinVar Variation Id: 320500
• ClinVar RCV Id: RCV000342958
• dbSNP Id: rs886052291
• MyVariant Identifiers: chr16:g.74761263G>A (hg19) ; chr16:g.74727365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74727365G>A , CM000678.2:g.74727365G>A	GRCh38
NC_000016.9:g.74761263G>A , CM000678.1:g.74761263G>A	GRCh37
NC_000016.8:g.73318764G>A	NCBI36
NG_017070.1:g.52467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219368.8:c.385C>T MANE Select	ENSP00000219368.3:p.Pro129Ser
ENST00000219368.7:c.385C>T	ENSP00000219368.3:p.Pro129Ser
ENST00000567683.5:c.364-8205C>T	ENSP00000455126.1:n.364-8205C>T
ENST00000569949.1:c.187C>T	ENSP00000464576.1:p.Pro63Ser
NM_024306.4:c.385C>T	NP_077282.3:p.Pro129Ser
XM_011523317.1:c.385C>T	XP_011521619.1:p.Pro129Ser
XM_011523318.1:c.385C>T	XP_011521620.1:p.Pro129Ser
XM_011523319.1:c.145C>T	XP_011521621.1:p.Pro49Ser
XM_011523317.3:c.385C>T	XP_011521619.1:p.Pro129Ser
XM_011523319.2:c.145C>T	XP_011521621.1:p.Pro49Ser
NM_024306.5:c.385C>T MANE Select	NP_077282.3:p.Pro129Ser