Canonical Allele Identifier: CA614436392

Gene: MAX

Linked Data

• dbSNP Id: rs1407069924
• gnomAD v2: 14-65542530-G-A
• gnomAD v3: 14-65075812-G-A
• gnomAD v4: 14-65075812-G-A
• MyVariant Identifiers: chr14:g.65542530G>A (hg19) ; chr14:g.65075812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075812G>A , CM000676.2:g.65075812G>A	GRCh38
NC_000014.8:g.65542530G>A , CM000676.1:g.65542530G>A	GRCh37
NC_000014.7:g.64612283G>A	NCBI36
NG_029830.1:g.31698C>T , LRG_530:g.31698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*664C>T	ENSP00000452206.2:n.*664C>T
ENST00000556979.6:c.*1600C>T	ENSP00000452378.1:n.*1600C>T
ENST00000358664.9:c.*664C>T MANE Select	ENSP00000351490.4:n.*664C>T
ENST00000651648.1:c.145-5443C>T	ENSP00000498863.1:n.145-5443C>T
ENST00000284165.10:c.*1991C>T	ENSP00000284165.6:n.*1991C>T
ENST00000341653.6:c.171+17896C>T	ENSP00000342482.2:n.171+17896C>T
ENST00000358402.8:c.*664C>T	ENSP00000351175.4:n.*664C>T
ENST00000358664.8:c.*664C>T	ENSP00000351490.4:n.*664C>T
ENST00000394606.6:c.*920C>T	ENSP00000378104.2:n.*920C>T
ENST00000555932.5:c.*639C>T	ENSP00000450763.1:n.*639C>T
ENST00000618858.4:c.*936C>T	ENSP00000480127.1:n.*936C>T
NM_001271069.1:c.144+17896C>T	NP_001257998.1:n.144+17896C>T
NM_002382.4:c.*664C>T	NP_002373.3:n.*664C>T
NM_145112.2:c.*664C>T	NP_660087.1:n.*664C>T
NM_145113.2:c.*936C>T	NP_660088.1:n.*936C>T
NM_197957.3:c.171+17896C>T	NP_932061.1:n.171+17896C>T
NR_073137.1:n.1271C>T
XR_429315.2:n.1434C>T
NM_001320415.1:c.*664C>T	NP_001307344.1:n.*664C>T
XM_017021312.2:c.*664C>T	XP_016876801.1:n.*664C>T
XM_017021313.1:c.*664C>T	XP_016876802.1:n.*664C>T
XR_001750326.2:n.1492C>T
XR_001750327.2:n.1411C>T
XR_002957553.1:n.1925C>T
XR_943450.3:n.1515C>T
XR_943451.3:n.1531C>T
XR_943452.3:n.1476C>T
NM_001320415.2:c.*664C>T	NP_001307344.1:n.*664C>T
NM_002382.5:c.*664C>T MANE Select	NP_002373.3:n.*664C>T
NM_145112.3:c.*664C>T	NP_660087.1:n.*664C>T
NM_145113.3:c.*936C>T	NP_660088.1:n.*936C>T
NM_001271069.2:c.144+17896C>T	NP_001257998.1:n.144+17896C>T
NM_197957.4:c.171+17896C>T	NP_932061.1:n.171+17896C>T