Canonical Allele Identifier: CA10640635

Gene: MAX

Linked Data

• ClinVar Variation Id: 313793
• ClinVar RCV Id: RCV000345638
• dbSNP Id: rs4902357
• gnomAD v2: 14-65542067-C-G
• gnomAD v3: 14-65075349-C-G
• gnomAD v4: 14-65075349-C-G
• MyVariant Identifiers: chr14:g.65542067C>G (hg19) ; chr14:g.65075349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075349C>G , CM000676.2:g.65075349C>G	GRCh38
NC_000014.8:g.65542067C>G , CM000676.1:g.65542067C>G	GRCh37
NC_000014.7:g.64611820C>G	NCBI36
NG_029830.1:g.32161G>C , LRG_530:g.32161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556979.6:c.*2063G>C	ENSP00000452378.1:n.*2063G>C
ENST00000358664.9:c.*1127G>C MANE Select	ENSP00000351490.4:n.*1127G>C
ENST00000651648.1:c.145-4980G>C	ENSP00000498863.1:n.145-4980G>C
ENST00000284165.10:c.*2454G>C	ENSP00000284165.6:n.*2454G>C
ENST00000341653.6:c.171+18359G>C	ENSP00000342482.2:n.171+18359G>C
ENST00000358402.8:c.*1127G>C	ENSP00000351175.4:n.*1127G>C
ENST00000394606.6:c.*1383G>C	ENSP00000378104.2:n.*1383G>C
ENST00000555932.5:c.*1102G>C	ENSP00000450763.1:n.*1102G>C
ENST00000618858.4:c.*1399G>C	ENSP00000480127.1:n.*1399G>C
NM_001271069.1:c.144+18359G>C	NP_001257998.1:n.144+18359G>C
NM_002382.4:c.*1127G>C	NP_002373.3:n.*1127G>C
NM_145112.2:c.*1127G>C	NP_660087.1:n.*1127G>C
NM_145113.2:c.*1399G>C	NP_660088.1:n.*1399G>C
NM_197957.3:c.171+18359G>C	NP_932061.1:n.171+18359G>C
NR_073137.1:n.1734G>C
XR_429315.2:n.1897G>C
NM_001320415.1:c.*1127G>C	NP_001307344.1:n.*1127G>C
XM_017021312.2:c.*1127G>C	XP_016876801.1:n.*1127G>C
XM_017021313.1:c.*1127G>C	XP_016876802.1:n.*1127G>C
XR_001750326.2:n.1955G>C
XR_001750327.2:n.1874G>C
XR_002957553.1:n.2388G>C
XR_943450.3:n.1978G>C
XR_943451.3:n.1994G>C
XR_943452.3:n.1939G>C
NM_001320415.2:c.*1127G>C	NP_001307344.1:n.*1127G>C
NM_002382.5:c.*1127G>C MANE Select	NP_002373.3:n.*1127G>C
NM_145112.3:c.*1127G>C	NP_660087.1:n.*1127G>C
NM_145113.3:c.*1399G>C	NP_660088.1:n.*1399G>C
NM_001271069.2:c.144+18359G>C	NP_001257998.1:n.144+18359G>C
NM_197957.4:c.171+18359G>C	NP_932061.1:n.171+18359G>C