Canonical Allele Identifier: CA15182735

Gene: GALNT3

Linked Data

• ClinVar Variation Id: 1232432
• ClinVar RCV Id: RCV001620252
• dbSNP Id: rs4621175
• gnomAD v2: 2-166648792-A-C
• gnomAD v3: 2-165792282-A-C
• gnomAD v4: 2-165792282-A-C
• MyVariant Identifiers: chr2:g.166648792A>C (hg19) ; chr2:g.165792282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165792282A>C , CM000664.2:g.165792282A>C	GRCh38
NC_000002.11:g.166648792A>C , CM000664.1:g.166648792A>C	GRCh37
NC_000002.10:g.166357038A>C	NCBI36
NG_012069.1:g.7012T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392701.8:c.-109+1733T>G MANE Select	ENSP00000376465.3:n.-109+1733T>G
ENST00000392701.7:c.-109+1733T>G	ENSP00000376465.3:n.-109+1733T>G
ENST00000412248.5:c.-228+2043T>G	ENSP00000412643.1:n.-228+2043T>G
ENST00000414977.5:c.-228+1438T>G	ENSP00000413477.1:n.-228+1438T>G
ENST00000422973.1:c.-228+1733T>G	ENSP00000413694.1:n.-228+1733T>G
ENST00000431484.1:c.-109+2207T>G	ENSP00000397112.1:n.-109+2207T>G
NM_004482.3:c.-109+1733T>G	NP_004473.2:n.-109+1733T>G
XM_006712402.2:c.-109+1733T>G	XP_006712465.1:n.-109+1733T>G
XM_011510929.1:c.-109+2207T>G	XP_011509231.1:n.-109+2207T>G
XM_017003770.1:c.-109+2043T>G	XP_016859259.1:n.-109+2043T>G
XR_002959253.1:n.233+1733T>G
NM_004482.4:c.-109+1733T>G MANE Select	NP_004473.2:n.-109+1733T>G