Canonical Allele Identifier: CA397080759

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835837A>G , CM000678.2:g.88835837A>G	GRCh38
NC_000016.9:g.88902245A>G , CM000678.1:g.88902245A>G	GRCh37
NC_000016.8:g.87429746A>G	NCBI36
NG_008667.1:g.26130T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.646T>C MANE Select	NP_000503.1:p.Phe216Leu
ENST00000268695.10:c.646T>C MANE Select	ENSP00000268695.5:p.Phe216Leu
NM_000512.4:c.646T>C	NP_000503.1:p.Phe216Leu
NM_001323543.1:c.91T>C	NP_001310472.1:p.Phe31Leu
NM_001323543.2:c.91T>C	NP_001310472.1:p.Phe31Leu
NM_001323544.1:c.664T>C	NP_001310473.1:p.Phe222Leu
NM_001323544.2:c.664T>C	NP_001310473.1:p.Phe222Leu
ENST00000268695.9:c.646T>C	ENSP00000268695.5:p.Phe216Leu
ENST00000562593.5:n.4055T>C
ENST00000562831.1:c.430T>C	ENSP00000455174.1:p.Phe144Leu
ENST00000562931.5:n.234T>C
ENST00000566563.1:n.348T>C
ENST00000567525.5:c.327T>C	ENSP00000454484.1:n.327T>C
ENST00000568613.5:c.765T>C	ENSP00000457921.1:n.765T>C
XM_005256301.2:c.646T>C	XP_005256358.1:p.Phe216Leu
XM_005256301.3:c.646T>C	XP_005256358.1:p.Phe216Leu
XM_005256302.1:c.664T>C	XP_005256359.1:p.Phe222Leu
XM_011522982.1:c.664T>C	XP_011521284.1:p.Phe222Leu
XM_011522982.2:c.664T>C	XP_011521284.1:p.Phe222Leu
XM_011522984.1:c.664T>C	XP_011521286.1:p.Phe222Leu
XM_017023111.2:c.664T>C	XP_016878600.1:p.Phe222Leu
XM_017023112.2:c.664T>C	XP_016878601.1:p.Phe222Leu
XM_017023113.1:c.91T>C	XP_016878602.1:p.Phe31Leu