Canonical Allele Identifier: CA607383724

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1416118191
• gnomAD v2: 12-102224562-G-A
• gnomAD v3: 12-101830784-G-A
• gnomAD v4: 12-101830784-G-A
• MyVariant Identifiers: chr12:g.102224562G>A (hg19) ; chr12:g.101830784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830784G>A , CM000674.2:g.101830784G>A	GRCh38
NC_000012.11:g.102224562G>A , CM000674.1:g.102224562G>A	GRCh37
NC_000012.10:g.100748693G>A	NCBI36
NG_021243.1:g.5084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-109C>T MANE Select	ENSP00000299314.7:n.-109C>T
ENST00000299314.11:c.-109C>T	ENSP00000299314.7:n.-109C>T
ENST00000392919.4:c.-109C>T	ENSP00000376651.4:n.-109C>T
ENST00000549940.5:c.-109C>T	ENSP00000449150.1:n.-109C>T
NM_024312.4:c.-109C>T	NP_077288.2:n.-109C>T
XM_006719593.2:c.-109C>T	XP_006719656.1:n.-109C>T
XM_006719593.3:c.-109C>T	XP_006719656.1:n.-109C>T
XM_017019961.1:c.-258C>T	XP_016875450.1:n.-258C>T
XM_017019962.2:c.-1459C>T	XP_016875451.1:n.-1459C>T
NM_024312.5:c.-109C>T MANE Select	NP_077288.2:n.-109C>T