Canonical Allele Identifier: CA8235037

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835836A>G , CM000678.2:g.88835836A>G	GRCh38
NC_000016.9:g.88902244A>G , CM000678.1:g.88902244A>G	GRCh37
NC_000016.8:g.87429745A>G	NCBI36
NG_008667.1:g.26131T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.647T>C MANE Select	NP_000503.1:p.Phe216Ser
ENST00000268695.10:c.647T>C MANE Select	ENSP00000268695.5:p.Phe216Ser
NM_000512.4:c.647T>C	NP_000503.1:p.Phe216Ser
NM_001323543.1:c.92T>C	NP_001310472.1:p.Phe31Ser
NM_001323543.2:c.92T>C	NP_001310472.1:p.Phe31Ser
NM_001323544.1:c.665T>C	NP_001310473.1:p.Phe222Ser
NM_001323544.2:c.665T>C	NP_001310473.1:p.Phe222Ser
ENST00000268695.9:c.647T>C	ENSP00000268695.5:p.Phe216Ser
ENST00000562593.5:n.4056T>C
ENST00000562831.1:c.431T>C	ENSP00000455174.1:p.Phe144Ser
ENST00000562931.5:n.235T>C
ENST00000566563.1:n.349T>C
ENST00000567525.5:c.328T>C	ENSP00000454484.1:n.328T>C
ENST00000568613.5:c.766T>C	ENSP00000457921.1:n.766T>C
XM_005256301.2:c.647T>C	XP_005256358.1:p.Phe216Ser
XM_005256301.3:c.647T>C	XP_005256358.1:p.Phe216Ser
XM_005256302.1:c.665T>C	XP_005256359.1:p.Phe222Ser
XM_011522982.1:c.665T>C	XP_011521284.1:p.Phe222Ser
XM_011522982.2:c.665T>C	XP_011521284.1:p.Phe222Ser
XM_011522984.1:c.665T>C	XP_011521286.1:p.Phe222Ser
XM_017023111.2:c.665T>C	XP_016878600.1:p.Phe222Ser
XM_017023112.2:c.665T>C	XP_016878601.1:p.Phe222Ser
XM_017023113.1:c.92T>C	XP_016878602.1:p.Phe31Ser