Canonical Allele Identifier: CA257932057

Gene: GZMB

Linked Data

• dbSNP Id: rs541920190
• gnomAD v2: 14-25102008-A-G
• gnomAD v3: 14-24632802-A-G
• gnomAD v4: 14-24632802-A-G
• MyVariant Identifiers: chr14:g.25102008A>G (hg19) ; chr14:g.24632802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24632802A>G , CM000676.2:g.24632802A>G	GRCh38
NC_000014.8:g.25102008A>G , CM000676.1:g.25102008A>G	GRCh37
NC_000014.7:g.24171848A>G	NCBI36
NG_028340.1:g.6425T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216341.9:c.203+113T>C MANE Select	ENSP00000216341.4:n.203+113T>C
ENST00000216341.8:c.203+113T>C	ENSP00000216341.4:n.203+113T>C
ENST00000382540.5:c.204-83T>C	ENSP00000371980.1:n.204-83T>C
ENST00000382542.5:c.203+113T>C	ENSP00000371982.2:n.203+113T>C
ENST00000415355.7:c.167+113T>C	ENSP00000387385.3:n.167+113T>C
ENST00000526004.1:c.203+113T>C	ENSP00000434213.1:n.203+113T>C
ENST00000530830.1:c.*126+113T>C	ENSP00000435084.1:n.*126+113T>C
ENST00000532263.5:c.56-684T>C	ENSP00000432074.1:n.56-684T>C
ENST00000554242.5:c.203+113T>C	ENSP00000450535.1:n.203+113T>C
ENST00000616551.1:c.52-681T>C	ENSP00000479643.1:n.52-681T>C
NM_004131.4:c.203+113T>C	NP_004122.2:n.203+113T>C
XM_011536685.1:c.167+113T>C	XP_011534987.1:n.167+113T>C
NM_001346011.1:c.167+113T>C	NP_001332940.1:n.167+113T>C
NM_004131.5:c.203+113T>C	NP_004122.2:n.203+113T>C
NR_144343.1:n.312+113T>C
NM_004131.6:c.203+113T>C MANE Select	NP_004122.2:n.203+113T>C
NM_001346011.2:c.167+113T>C	NP_001332940.1:n.167+113T>C
NR_144343.2:n.233+113T>C