Canonical Allele Identifier: CA8235209

Gene: GALNS

Linked Data

• dbSNP Id: rs771608136
• ExAC: 16:88908286 G / A
• gnomAD v2: 16-88908286-G-A
• gnomAD v4: 16-88841878-G-A
• MyVariant Identifiers: chr16:g.88908286G>A (hg19) ; chr16:g.88841878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841878G>A , CM000678.2:g.88841878G>A	GRCh38
NC_000016.9:g.88908286G>A , CM000678.1:g.88908286G>A	GRCh37
NC_000016.8:g.87435787G>A	NCBI36
NG_008667.1:g.20089C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.319+19C>T MANE Select	ENSP00000268695.5:n.319+19C>T
ENST00000268695.9:c.319+19C>T	ENSP00000268695.5:n.319+19C>T
ENST00000562593.5:n.3728+19C>T
ENST00000562831.1:c.103+19C>T	ENSP00000455174.1:n.103+19C>T
ENST00000565364.1:n.454+19C>T
ENST00000567525.5:c.144+19C>T	ENSP00000454484.1:n.144+19C>T
ENST00000567779.1:n.149+19C>T
ENST00000568613.5:c.438+19C>T	ENSP00000457921.1:n.438+19C>T
NM_000512.4:c.319+19C>T	NP_000503.1:n.319+19C>T
XM_005256301.2:c.319+19C>T	XP_005256358.1:n.319+19C>T
XM_005256302.1:c.337+19C>T	XP_005256359.1:n.337+19C>T
XM_011522982.1:c.337+19C>T	XP_011521284.1:n.337+19C>T
XM_011522984.1:c.337+19C>T	XP_011521286.1:n.337+19C>T
NM_001323543.1:c.-237+19C>T	NP_001310472.1:n.-237+19C>T
NM_001323544.1:c.337+19C>T	NP_001310473.1:n.337+19C>T
XM_005256301.3:c.319+19C>T	XP_005256358.1:n.319+19C>T
XM_011522982.2:c.337+19C>T	XP_011521284.1:n.337+19C>T
XM_017023111.2:c.337+19C>T	XP_016878600.1:n.337+19C>T
XM_017023112.2:c.337+19C>T	XP_016878601.1:n.337+19C>T
XM_017023113.1:c.-237+19C>T	XP_016878602.1:n.-237+19C>T
NM_000512.5:c.319+19C>T MANE Select	NP_000503.1:n.319+19C>T
NM_001323543.2:c.-237+19C>T	NP_001310472.1:n.-237+19C>T
NM_001323544.2:c.337+19C>T	NP_001310473.1:n.337+19C>T