Canonical Allele Identifier: CA10635098

Gene: MAX

Linked Data

• ClinVar Variation Id: 313807
• ClinVar RCV Id: RCV000325472
• dbSNP Id: rs4902359
• gnomAD v2: 14-65542790-G-A
• gnomAD v3: 14-65076072-G-A
• gnomAD v4: 14-65076072-G-A
• MyVariant Identifiers: chr14:g.65542790G>A (hg19) ; chr14:g.65076072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076072G>A , CM000676.2:g.65076072G>A	GRCh38
NC_000014.8:g.65542790G>A , CM000676.1:g.65542790G>A	GRCh37
NC_000014.7:g.64612543G>A	NCBI36
NG_029830.1:g.31438C>T , LRG_530:g.31438C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556892.6:c.*404C>T	ENSP00000452206.2:n.*404C>T
ENST00000556979.6:c.*1340C>T	ENSP00000452378.1:n.*1340C>T
ENST00000358664.9:c.*404C>T MANE Select	ENSP00000351490.4:n.*404C>T
ENST00000651648.1:c.145-5703C>T	ENSP00000498863.1:n.145-5703C>T
ENST00000284165.10:c.*1731C>T	ENSP00000284165.6:n.*1731C>T
ENST00000341653.6:c.171+17636C>T	ENSP00000342482.2:n.171+17636C>T
ENST00000358402.8:c.*404C>T	ENSP00000351175.4:n.*404C>T
ENST00000358664.8:c.*404C>T	ENSP00000351490.4:n.*404C>T
ENST00000394606.6:c.*660C>T	ENSP00000378104.2:n.*660C>T
ENST00000555932.5:c.*379C>T	ENSP00000450763.1:n.*379C>T
ENST00000618858.4:c.*676C>T	ENSP00000480127.1:n.*676C>T
NM_001271069.1:c.144+17636C>T	NP_001257998.1:n.144+17636C>T
NM_002382.4:c.*404C>T	NP_002373.3:n.*404C>T
NM_145112.2:c.*404C>T	NP_660087.1:n.*404C>T
NM_145113.2:c.*676C>T	NP_660088.1:n.*676C>T
NM_197957.3:c.171+17636C>T	NP_932061.1:n.171+17636C>T
NR_073137.1:n.1011C>T
XR_429315.2:n.1174C>T
NM_001320415.1:c.*404C>T	NP_001307344.1:n.*404C>T
XM_017021312.2:c.*404C>T	XP_016876801.1:n.*404C>T
XM_017021313.1:c.*404C>T	XP_016876802.1:n.*404C>T
XR_001750326.2:n.1232C>T
XR_001750327.2:n.1151C>T
XR_002957553.1:n.1665C>T
XR_943450.3:n.1255C>T
XR_943451.3:n.1271C>T
XR_943452.3:n.1216C>T
NM_001320415.2:c.*404C>T	NP_001307344.1:n.*404C>T
NM_002382.5:c.*404C>T MANE Select	NP_002373.3:n.*404C>T
NM_145112.3:c.*404C>T	NP_660087.1:n.*404C>T
NM_145113.3:c.*676C>T	NP_660088.1:n.*676C>T
NM_001271069.2:c.144+17636C>T	NP_001257998.1:n.144+17636C>T
NM_197957.4:c.171+17636C>T	NP_932061.1:n.171+17636C>T