Canonical Allele Identifier: CA447179826

Gene: GM2A

Linked Data

• MyVariant Identifiers: chr5:g.150639318A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151259757A>C , CM000667.2:g.151259757A>C	GRCh38
NC_000005.9:g.150639318A>C , CM000667.1:g.150639318A>C	GRCh37
NC_000005.8:g.150619511A>C	NCBI36
NG_009059.1:g.11706A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357164.4:c.84A>C MANE Select	ENSP00000349687.3:p.Pro28=
ENST00000357164.3:c.84A>C	ENSP00000349687.3:p.Pro28=
ENST00000523466.5:c.129A>C	ENSP00000429100.1:p.Pro43=
NM_000405.4:c.84A>C	NP_000396.2:p.Pro28=
NM_001167607.1:c.84A>C	NP_001161079.1:p.Pro28=
NM_000405.5:c.84A>C MANE Select	NP_000396.2:p.Pro28=
NM_001167607.2:c.84A>C	NP_001161079.1:p.Pro28=
NM_001167607.3:c.84A>C	NP_001161079.1:p.Pro28=