Canonical Allele Identifier: CA397083329

Gene: GALNS

Linked Data

• ClinVar Variation Id: 528321
• ClinVar RCV Id: RCV000633459 ; RCV002222567 ; RCV003151799
• dbSNP Id: rs1308500116
• gnomAD v2: 16-88904130-A-G
• gnomAD v4: 16-88837722-A-G
• COSMIC: COSM5017196
• MyVariant Identifiers: chr16:g.88904130A>G (hg19) ; chr16:g.88837722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837722A>G , CM000678.2:g.88837722A>G	GRCh38
NC_000016.9:g.88904130A>G , CM000678.1:g.88904130A>G	GRCh37
NC_000016.8:g.87431631A>G	NCBI36
NG_008667.1:g.24245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.466T>C MANE Select	ENSP00000268695.5:p.Phe156Leu
ENST00000268695.9:c.466T>C	ENSP00000268695.5:p.Phe156Leu
ENST00000561812.1:n.422T>C
ENST00000562593.5:n.3875T>C
ENST00000562831.1:c.250T>C	ENSP00000455174.1:p.Phe84Leu
ENST00000562931.5:n.54T>C
ENST00000566563.1:n.168T>C
ENST00000567525.5:c.248-1455T>C	ENSP00000454484.1:n.248-1455T>C
ENST00000568613.5:c.585T>C	ENSP00000457921.1:n.585T>C
NM_000512.4:c.466T>C	NP_000503.1:p.Phe156Leu
XM_005256301.2:c.466T>C	XP_005256358.1:p.Phe156Leu
XM_005256302.1:c.484T>C	XP_005256359.1:p.Phe162Leu
XM_011522982.1:c.484T>C	XP_011521284.1:p.Phe162Leu
XM_011522984.1:c.484T>C	XP_011521286.1:p.Phe162Leu
NM_001323543.1:c.-90T>C	NP_001310472.1:n.-90T>C
NM_001323544.1:c.484T>C	NP_001310473.1:p.Phe162Leu
XM_005256301.3:c.466T>C	XP_005256358.1:p.Phe156Leu
XM_011522982.2:c.484T>C	XP_011521284.1:p.Phe162Leu
XM_017023111.2:c.484T>C	XP_016878600.1:p.Phe162Leu
XM_017023112.2:c.484T>C	XP_016878601.1:p.Phe162Leu
XM_017023113.1:c.-90T>C	XP_016878602.1:n.-90T>C
NM_000512.5:c.466T>C MANE Select	NP_000503.1:p.Phe156Leu
NM_001323543.2:c.-90T>C	NP_001310472.1:n.-90T>C
NM_001323544.2:c.484T>C	NP_001310473.1:p.Phe162Leu