Canonical Allele Identifier: CA396769971

Gene: FA2H

Linked Data

• MyVariant Identifiers: chr16:g.74760230C>G (hg19) ; chr16:g.74726332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74726332C>G , CM000678.2:g.74726332C>G	GRCh38
NC_000016.9:g.74760230C>G , CM000678.1:g.74760230C>G	GRCh37
NC_000016.8:g.73317731C>G	NCBI36
NG_017070.1:g.53500G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000219368.8:c.507-1G>C MANE Select	ENSP00000219368.3:n.507-1G>C
ENST00000219368.7:c.507-1G>C	ENSP00000219368.3:n.507-1G>C
ENST00000567683.5:c.364-7172G>C	ENSP00000455126.1:n.364-7172G>C
ENST00000569949.1:c.309-1G>C	ENSP00000464576.1:n.309-1G>C
NM_024306.4:c.507-1G>C	NP_077282.3:n.507-1G>C
XM_011523317.1:c.507-1G>C	XP_011521619.1:n.507-1G>C
XM_011523318.1:c.507-1G>C	XP_011521620.1:n.507-1G>C
XM_011523319.1:c.267-1G>C	XP_011521621.1:n.267-1G>C
XM_011523317.3:c.507-1G>C	XP_011521619.1:n.507-1G>C
XM_011523319.2:c.267-1G>C	XP_011521621.1:n.267-1G>C
NM_024306.5:c.507-1G>C MANE Select	NP_077282.3:n.507-1G>C