Canonical Allele Identifier: CA10635093

Gene: MAX

Linked Data

• ClinVar Variation Id: 313791
• ClinVar RCV Id: RCV000384901
• dbSNP Id: rs748335228
• gnomAD v2: 14-65541918-C-G
• gnomAD v3: 14-65075200-C-G
• gnomAD v4: 14-65075200-C-G
• MyVariant Identifiers: chr14:g.65541918C>G (hg19) ; chr14:g.65075200C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075200C>G , CM000676.2:g.65075200C>G	GRCh38
NC_000014.8:g.65541918C>G , CM000676.1:g.65541918C>G	GRCh37
NC_000014.7:g.64611671C>G	NCBI36
NG_029830.1:g.32310G>C , LRG_530:g.32310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000556979.6:c.*2212G>C	ENSP00000452378.1:n.*2212G>C
ENST00000358664.9:c.*1276G>C MANE Select	ENSP00000351490.4:n.*1276G>C
ENST00000651648.1:c.145-4831G>C	ENSP00000498863.1:n.145-4831G>C
ENST00000341653.6:c.171+18508G>C	ENSP00000342482.2:n.171+18508G>C
ENST00000358402.8:c.*1276G>C	ENSP00000351175.4:n.*1276G>C
ENST00000394606.6:c.*1532G>C	ENSP00000378104.2:n.*1532G>C
ENST00000555932.5:c.*1251G>C	ENSP00000450763.1:n.*1251G>C
ENST00000618858.4:c.*1548G>C	ENSP00000480127.1:n.*1548G>C
NM_001271069.1:c.144+18508G>C	NP_001257998.1:n.144+18508G>C
NM_002382.4:c.*1276G>C	NP_002373.3:n.*1276G>C
NM_145112.2:c.*1276G>C	NP_660087.1:n.*1276G>C
NM_145113.2:c.*1548G>C	NP_660088.1:n.*1548G>C
NM_197957.3:c.171+18508G>C	NP_932061.1:n.171+18508G>C
NR_073137.1:n.1883G>C
XR_429315.2:n.2046G>C
NM_001320415.1:c.*1276G>C	NP_001307344.1:n.*1276G>C
XM_017021312.2:c.*1276G>C	XP_016876801.1:n.*1276G>C
XM_017021313.1:c.*1276G>C	XP_016876802.1:n.*1276G>C
XR_001750326.2:n.2104G>C
XR_001750327.2:n.2023G>C
XR_002957553.1:n.2537G>C
XR_943450.3:n.2127G>C
XR_943451.3:n.2143G>C
XR_943452.3:n.2088G>C
NM_001320415.2:c.*1276G>C	NP_001307344.1:n.*1276G>C
NM_002382.5:c.*1276G>C MANE Select	NP_002373.3:n.*1276G>C
NM_145112.3:c.*1276G>C	NP_660087.1:n.*1276G>C
NM_145113.3:c.*1548G>C	NP_660088.1:n.*1548G>C
NM_001271069.2:c.144+18508G>C	NP_001257998.1:n.144+18508G>C
NM_197957.4:c.171+18508G>C	NP_932061.1:n.171+18508G>C