Canonical Allele Identifier: CA8235030

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835798A>G , CM000678.2:g.88835798A>G	GRCh38
NC_000016.9:g.88902206A>G , CM000678.1:g.88902206A>G	GRCh37
NC_000016.8:g.87429707A>G	NCBI36
NG_008667.1:g.26169T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.685T>C MANE Select	NP_000503.1:p.Tyr229His
ENST00000268695.10:c.685T>C MANE Select	ENSP00000268695.5:p.Tyr229His
NM_000512.4:c.685T>C	NP_000503.1:p.Tyr229His
NM_001323543.1:c.130T>C	NP_001310472.1:p.Tyr44His
NM_001323543.2:c.130T>C	NP_001310472.1:p.Tyr44His
NM_001323544.1:c.703T>C	NP_001310473.1:p.Tyr235His
NM_001323544.2:c.703T>C	NP_001310473.1:p.Tyr235His
ENST00000268695.9:c.685T>C	ENSP00000268695.5:p.Tyr229His
ENST00000562593.5:n.4094T>C
ENST00000562831.1:c.469T>C	ENSP00000455174.1:p.Tyr157His
ENST00000562931.5:n.273T>C
ENST00000566563.1:n.387T>C
ENST00000567525.5:c.366T>C	ENSP00000454484.1:n.366T>C
ENST00000568613.5:c.804T>C	ENSP00000457921.1:n.804T>C
XM_005256301.2:c.685T>C	XP_005256358.1:p.Tyr229His
XM_005256301.3:c.685T>C	XP_005256358.1:p.Tyr229His
XM_005256302.1:c.703T>C	XP_005256359.1:p.Tyr235His
XM_011522982.1:c.703T>C	XP_011521284.1:p.Tyr235His
XM_011522982.2:c.703T>C	XP_011521284.1:p.Tyr235His
XM_011522984.1:c.703T>C	XP_011521286.1:p.Tyr235His
XM_017023111.2:c.703T>C	XP_016878600.1:p.Tyr235His
XM_017023112.2:c.703T>C	XP_016878601.1:p.Tyr235His
XM_017023113.1:c.130T>C	XP_016878602.1:p.Tyr44His