Canonical Allele Identifier: CA59743532

Gene: GALNT3

Linked Data

• dbSNP Id: rs112159792
• gnomAD v2: 2-166607713-G-A
• gnomAD v3: 2-165751203-G-A
• gnomAD v4: 2-165751203-G-A
• MyVariant Identifiers: chr2:g.166607713G>A (hg19) ; chr2:g.165751203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165751203G>A , CM000664.2:g.165751203G>A	GRCh38
NC_000002.11:g.166607713G>A , CM000664.1:g.166607713G>A	GRCh37
NC_000002.10:g.166315959G>A	NCBI36
NG_012069.1:g.48091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392701.8:c.1627-1309C>T MANE Select	ENSP00000376465.3:n.1627-1309C>T
ENST00000392701.7:c.1627-1309C>T	ENSP00000376465.3:n.1627-1309C>T
ENST00000409882.5:c.841-1309C>T	ENSP00000386955.1:n.841-1309C>T
NM_004482.3:c.1627-1309C>T	NP_004473.2:n.1627-1309C>T
XM_005246449.1:c.1627-1309C>T	XP_005246506.1:n.1627-1309C>T
XM_011510929.1:c.1627-1309C>T	XP_011509231.1:n.1627-1309C>T
XM_017003770.1:c.1627-1309C>T	XP_016859259.1:n.1627-1309C>T
XR_002959253.1:n.1903-1309C>T
NM_004482.4:c.1627-1309C>T MANE Select	NP_004473.2:n.1627-1309C>T