Canonical Allele Identifier: CA390031635

Gene: MAX

Linked Data

• MyVariant Identifiers: chr14:g.65543288G>T (hg19) ; chr14:g.65076570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076570G>T , CM000676.2:g.65076570G>T	GRCh38
NC_000014.8:g.65543288G>T , CM000676.1:g.65543288G>T	GRCh37
NC_000014.7:g.64613041G>T	NCBI36
NG_029830.1:g.30940C>A , LRG_530:g.30940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.170C>A	ENSP00000452206.2:p.Thr57Asn
ENST00000556979.6:c.*842C>A	ENSP00000452378.1:n.*842C>A
ENST00000358664.9:c.389C>A MANE Select	ENSP00000351490.4:p.Thr130Asn
ENST00000651648.1:c.145-6201C>A	ENSP00000498863.1:n.145-6201C>A
ENST00000284165.10:c.*1233C>A	ENSP00000284165.6:n.*1233C>A
ENST00000341653.6:c.171+17138C>A	ENSP00000342482.2:n.171+17138C>A
ENST00000358402.8:c.362C>A	ENSP00000351175.4:p.Thr121Asn
ENST00000358664.8:c.389C>A	ENSP00000351490.4:p.Thr130Asn
ENST00000394606.6:c.*162C>A	ENSP00000378104.2:n.*162C>A
ENST00000553928.5:c.*178C>A	ENSP00000451907.1:n.*178C>A
ENST00000555419.5:c.281C>A	ENSP00000452405.1:p.Thr94Asn
ENST00000555932.5:c.130C>A	ENSP00000450763.1:p.Pro44Thr
ENST00000557277.5:c.200C>A	ENSP00000450955.1:p.Thr67Asn
ENST00000618858.4:c.*178C>A	ENSP00000480127.1:n.*178C>A
NM_001271069.1:c.144+17138C>A	NP_001257998.1:n.144+17138C>A
NM_002382.4:c.389C>A	NP_002373.3:p.Thr130Asn
NM_145112.2:c.362C>A	NP_660087.1:p.Thr121Asn
NM_145113.2:c.*178C>A	NP_660088.1:n.*178C>A
NM_197957.3:c.171+17138C>A	NP_932061.1:n.171+17138C>A
NR_073137.1:n.513C>A
XR_429315.2:n.676C>A
NM_001320415.1:c.200C>A	NP_001307344.1:p.Thr67Asn
XM_017021312.2:c.200C>A	XP_016876801.1:p.Thr67Asn
XM_017021313.1:c.200C>A	XP_016876802.1:p.Thr67Asn
XR_001750326.2:n.734C>A
XR_001750327.2:n.653C>A
XR_002957553.1:n.1167C>A
XR_943450.3:n.757C>A
XR_943451.3:n.773C>A
XR_943452.3:n.718C>A
NM_001320415.2:c.200C>A	NP_001307344.1:p.Thr67Asn
NM_002382.5:c.389C>A MANE Select	NP_002373.3:p.Thr130Asn
NM_145112.3:c.362C>A	NP_660087.1:p.Thr121Asn
NM_145113.3:c.*178C>A	NP_660088.1:n.*178C>A
NM_001271069.2:c.144+17138C>A	NP_001257998.1:n.144+17138C>A
NM_197957.4:c.171+17138C>A	NP_932061.1:n.171+17138C>A