Canonical Allele Identifier: CA397101974

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs1406362143
• gnomAD v2: 16-88923236-A-G
• gnomAD v4: 16-88856828-A-G
• MyVariant Identifiers: chr16:g.88923236A>G (hg19) ; chr16:g.88856828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856828A>G , CM000678.2:g.88856828A>G	GRCh38
NC_000016.9:g.88923236A>G , CM000678.1:g.88923236A>G	GRCh37
NC_000016.8:g.87450737A>G	NCBI36
NG_008667.1:g.5139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.50T>C (GALNS) MANE Select	ENSP00000268695.5:p.Leu17Pro
ENST00000268695.9:c.50T>C (GALNS)	ENSP00000268695.5:p.Leu17Pro
ENST00000564365.5:c.-398+582A>G (TRAPPC2L)	ENSP00000455447.1:n.-398+582A>G
ENST00000565364.1:n.15T>C (GALNS)
ENST00000568311.1:c.50T>C (GALNS)	ENSP00000455006.1:p.Leu17Pro
ENST00000569433.1:c.50T>C (GALNS)	ENSP00000456884.1:p.Leu17Pro
NM_000512.4:c.50T>C (GALNS)	NP_000503.1:p.Leu17Pro
XM_005256301.2:c.50T>C (GALNS)	XP_005256358.1:p.Leu17Pro
XM_005256302.1:c.-103T>C (GALNS)	XP_005256359.1:n.-103T>C
XM_011522982.1:c.-103T>C (GALNS)	XP_011521284.1:n.-103T>C
XM_011522984.1:c.-103T>C (GALNS)	XP_011521286.1:n.-103T>C
NM_001323543.1:c.-382T>C (GALNS)	NP_001310472.1:n.-382T>C
NM_001323544.1:c.-103T>C (GALNS)	NP_001310473.1:n.-103T>C
NR_134671.1:n.27+582A>G (TRAPPC2L)
XM_005256301.3:c.50T>C (GALNS)	XP_005256358.1:p.Leu17Pro
XM_011522982.2:c.-103T>C (GALNS)	XP_011521284.1:n.-103T>C
XM_017023113.1:c.-382T>C (GALNS)	XP_016878602.1:n.-382T>C
NM_000512.5:c.50T>C (GALNS) MANE Select	NP_000503.1:p.Leu17Pro
NM_001323543.2:c.-382T>C (GALNS)	NP_001310472.1:n.-382T>C
NM_001323544.2:c.-103T>C (GALNS)	NP_001310473.1:n.-103T>C
NR_134671.2:n.27+582A>G (TRAPPC2L)