Canonical Allele Identifier: CA497080151

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88908372C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841964C>A , CM000678.2:g.88841964C>A	GRCh38
NC_000016.9:g.88908372C>A , CM000678.1:g.88908372C>A	GRCh37
NC_000016.8:g.87435873C>A	NCBI36
NG_008667.1:g.20003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.252G>T MANE Select	ENSP00000268695.5:p.Ala84=
ENST00000268695.9:c.252G>T	ENSP00000268695.5:p.Ala84=
ENST00000562593.5:n.3661G>T
ENST00000562831.1:c.36G>T	ENSP00000455174.1:p.Ala12=
ENST00000565364.1:n.387G>T
ENST00000567525.5:c.77G>T	ENSP00000454484.1:p.Arg26Leu
ENST00000567779.1:n.82G>T
ENST00000568613.5:c.371G>T	ENSP00000457921.1:n.371G>T
NM_000512.4:c.252G>T	NP_000503.1:p.Ala84=
XM_005256301.2:c.252G>T	XP_005256358.1:p.Ala84=
XM_005256302.1:c.270G>T	XP_005256359.1:p.Ala90=
XM_011522982.1:c.270G>T	XP_011521284.1:p.Ala90=
XM_011522984.1:c.270G>T	XP_011521286.1:p.Ala90=
NM_001323543.1:c.-304G>T	NP_001310472.1:n.-304G>T
NM_001323544.1:c.270G>T	NP_001310473.1:p.Ala90=
XM_005256301.3:c.252G>T	XP_005256358.1:p.Ala84=
XM_011522982.2:c.270G>T	XP_011521284.1:p.Ala90=
XM_017023111.2:c.270G>T	XP_016878600.1:p.Ala90=
XM_017023112.2:c.270G>T	XP_016878601.1:p.Ala90=
XM_017023113.1:c.-304G>T	XP_016878602.1:n.-304G>T
NM_000512.5:c.252G>T MANE Select	NP_000503.1:p.Ala84=
NM_001323543.2:c.-304G>T	NP_001310472.1:n.-304G>T
NM_001323544.2:c.270G>T	NP_001310473.1:p.Ala90=