Canonical Allele Identifier: CA497108453

Gene: GALNS

Linked Data

• ClinVar Variation Id: 2976270
• ClinVar RCV Id: RCV003836420
• dbSNP Id: rs1161915851
• gnomAD v2: 16-88893139-G-A
• gnomAD v4: 16-88826731-G-A
• MyVariant Identifiers: chr16:g.88893139G>A (hg19) ; chr16:g.88826731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826731G>A , CM000678.2:g.88826731G>A	GRCh38
NC_000016.9:g.88893139G>A , CM000678.1:g.88893139G>A	GRCh37
NC_000016.8:g.87420640G>A	NCBI36
NG_008667.1:g.35236C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.1110C>T MANE Select	ENSP00000268695.5:p.Pro370=
ENST00000268695.9:c.1110C>T	ENSP00000268695.5:p.Pro370=
ENST00000562593.5:n.4519C>T
ENST00000564263.1:n.386C>T
ENST00000567525.5:c.791C>T	ENSP00000454484.1:n.791C>T
ENST00000568613.5:c.1229C>T	ENSP00000457921.1:n.1229C>T
NM_000512.4:c.1110C>T	NP_000503.1:p.Pro370=
XM_005256301.2:c.1110C>T	XP_005256358.1:p.Pro370=
XM_005256302.1:c.1128C>T	XP_005256359.1:p.Pro376=
XM_011522982.1:c.1128C>T	XP_011521284.1:p.Pro376=
XM_011522984.1:c.1128C>T	XP_011521286.1:p.Pro376=
NM_001323543.1:c.555C>T	NP_001310472.1:p.Pro185=
NM_001323544.1:c.1128C>T	NP_001310473.1:p.Pro376=
XM_005256301.3:c.1110C>T	XP_005256358.1:p.Pro370=
XM_011522982.2:c.1128C>T	XP_011521284.1:p.Pro376=
XM_017023111.2:c.1128C>T	XP_016878600.1:p.Pro376=
XM_017023112.2:c.1128C>T	XP_016878601.1:p.Pro376=
XM_017023113.1:c.555C>T	XP_016878602.1:p.Pro185=
NM_000512.5:c.1110C>T MANE Select	NP_000503.1:p.Pro370=
NM_001323543.2:c.555C>T	NP_001310472.1:p.Pro185=
NM_001323544.2:c.1128C>T	NP_001310473.1:p.Pro376=