Canonical Allele Identifier: CA107685369

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145657882T>C , CM000666.2:g.145657882T>C	GRCh38
NC_000004.11:g.146579034T>C , CM000666.1:g.146579034T>C	GRCh37
NC_000004.10:g.146798484T>C	NCBI36
NG_007536.1:g.43585T>C
NG_007536.2:g.63841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648388.1:c.*2448T>C	ENSP00000497046.1:n.*2448T>C
ENST00000649156.2:c.*2448T>C MANE Select	ENSP00000497008.1:n.*2448T>C
ENST00000281317.9:c.*2448T>C	ENSP00000281317.5:n.*2448T>C
NM_172250.2:c.*2448T>C	NP_758454.1:n.*2448T>C
XM_011531684.1:c.*2448T>C	XP_011529986.1:n.*2448T>C
XM_011531685.1:c.*2448T>C	XP_011529987.1:n.*2448T>C
XM_011531686.1:c.*2448T>C	XP_011529988.1:n.*2448T>C
NM_172250.3:c.*2448T>C MANE Select	NP_758454.1:n.*2448T>C
XM_011531684.3:c.*2448T>C	XP_011529986.1:n.*2448T>C
XM_011531685.2:c.*2448T>C	XP_011529987.1:n.*2448T>C
XM_011531686.2:c.*2448T>C	XP_011529988.1:n.*2448T>C
NM_001375644.1:c.*2448T>C	NP_001362573.1:n.*2448T>C