Canonical Allele Identifier: CA262716619

Gene: MAX

Linked Data

• dbSNP Id: rs1043882534
• gnomAD v2: 14-65542590-C-T
• gnomAD v3: 14-65075872-C-T
• gnomAD v4: 14-65075872-C-T
• MyVariant Identifiers: chr14:g.65542590C>T (hg19) ; chr14:g.65075872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075872C>T , CM000676.2:g.65075872C>T	GRCh38
NC_000014.8:g.65542590C>T , CM000676.1:g.65542590C>T	GRCh37
NC_000014.7:g.64612343C>T	NCBI36
NG_029830.1:g.31638G>A , LRG_530:g.31638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*604G>A	ENSP00000452206.2:n.*604G>A
ENST00000556979.6:c.*1540G>A	ENSP00000452378.1:n.*1540G>A
ENST00000358664.9:c.*604G>A MANE Select	ENSP00000351490.4:n.*604G>A
ENST00000651648.1:c.145-5503G>A	ENSP00000498863.1:n.145-5503G>A
ENST00000284165.10:c.*1931G>A	ENSP00000284165.6:n.*1931G>A
ENST00000341653.6:c.171+17836G>A	ENSP00000342482.2:n.171+17836G>A
ENST00000358402.8:c.*604G>A	ENSP00000351175.4:n.*604G>A
ENST00000358664.8:c.*604G>A	ENSP00000351490.4:n.*604G>A
ENST00000394606.6:c.*860G>A	ENSP00000378104.2:n.*860G>A
ENST00000555932.5:c.*579G>A	ENSP00000450763.1:n.*579G>A
ENST00000618858.4:c.*876G>A	ENSP00000480127.1:n.*876G>A
NM_001271069.1:c.144+17836G>A	NP_001257998.1:n.144+17836G>A
NM_002382.4:c.*604G>A	NP_002373.3:n.*604G>A
NM_145112.2:c.*604G>A	NP_660087.1:n.*604G>A
NM_145113.2:c.*876G>A	NP_660088.1:n.*876G>A
NM_197957.3:c.171+17836G>A	NP_932061.1:n.171+17836G>A
NR_073137.1:n.1211G>A
XR_429315.2:n.1374G>A
NM_001320415.1:c.*604G>A	NP_001307344.1:n.*604G>A
XM_017021312.2:c.*604G>A	XP_016876801.1:n.*604G>A
XM_017021313.1:c.*604G>A	XP_016876802.1:n.*604G>A
XR_001750326.2:n.1432G>A
XR_001750327.2:n.1351G>A
XR_002957553.1:n.1865G>A
XR_943450.3:n.1455G>A
XR_943451.3:n.1471G>A
XR_943452.3:n.1416G>A
NM_001320415.2:c.*604G>A	NP_001307344.1:n.*604G>A
NM_002382.5:c.*604G>A MANE Select	NP_002373.3:n.*604G>A
NM_145112.3:c.*604G>A	NP_660087.1:n.*604G>A
NM_145113.3:c.*876G>A	NP_660088.1:n.*876G>A
NM_001271069.2:c.144+17836G>A	NP_001257998.1:n.144+17836G>A
NM_197957.4:c.171+17836G>A	NP_932061.1:n.171+17836G>A