Canonical Allele Identifier: CA12999775

Gene: GSN

Linked Data

• dbSNP Id: rs10818524
• gnomAD v2: 9-124030179-T-C
• gnomAD v3: 9-121267901-T-C
• gnomAD v4: 9-121267901-T-C
• MyVariant Identifiers: chr9:g.124030179T>C (hg19) ; chr9:g.121267901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121267901T>C , CM000671.2:g.121267901T>C	GRCh38
NC_000009.11:g.124030179T>C , CM000671.1:g.124030179T>C	GRCh37
NC_000009.10:g.123070000T>C	NCBI36
NG_012872.1:g.4800T>C
NG_012872.2:g.71820T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373823.7:c.-103+2147T>C	ENSP00000362929.2:n.-103+2147T>C
XM_011518591.1:c.-103+2147T>C	XP_011516893.1:n.-103+2147T>C
NM_001353053.1:c.-103+376T>C	NP_001339982.1:n.-103+376T>C
NM_001353054.1:c.-103+2147T>C	NP_001339983.1:n.-103+2147T>C
XM_024447523.1:c.-103+2147T>C	XP_024303291.1:n.-103+2147T>C
XM_024447524.1:c.-103+2147T>C	XP_024303292.1:n.-103+2147T>C